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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1
Deletion
(intron variant)
RPGRIP1-related disorder
+3 more
GConflicting classifications of pathogenicity
RPGRIP1
Single nucleotide variant
(splice donor variant)
Leber congenital amaurosis
+2 more
GPathogenic
RPGRIP1
(R981* +4 more)
Single nucleotide variant
(nonsense)
Leber congenital amaurosis
+3 more
GPathogenic
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